Conditions / Genetic
prolidase deficiency
info · Genetic
An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that h
An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11.
Signs and symptoms
- Hepatomegaly
- Recurrent infections
- Prominent forehead
- Hypertelorism
- Prolonged neonatal jaundice
- Skin ulcer
- Elevated circulating aspartate aminotransferase concentration
- Depressed nasal bridge
- Reduced tissue peptidase D activity
- Eczematoid dermatitis
Also known as: hyperimidodipeptiduria; imidodipeptidase deficiency; peptidase deficiency